ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)

dbSNP: rs2065102310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001290496 SCV001478535 likely pathogenic Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The ITGB3 missense variant NM_000212.3:c.647A>G replaces the tyrosine residue with a cysteine residue (p.Tyr216Cys). This variant has been observed in homozygosity in a proband (GT-4, PMID: 25539746) with a phenotype specific for Glanzmann's thrombasthenia (PP4_moderate) and in heterozygosity in an individual with a second pathogenic ITGB3 variant in trans (GT-11, PMID: 25539746; PM3). This variant has not been reported in population databases (PM2_supporting) and is predicted to be damaging by in silico tools (REVEL 0.953; PP3). In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM3, PP4_moderate, PM2_supporting, PP3.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222694 SCV002500894 likely pathogenic Glanzmann thrombasthenia 2 criteria provided, single submitter clinical testing

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